Writer: Natasha Matta
Summary of Significance
Erdheim-Chester disease is a rare form of blood cancer and a histiocytic neoplasm, a condition where white blood cells called histiocytes are overproduced. White blood cells traditionally protect the body against infection and foreign agents, but in histiocytic neoplasm, these cells lead to inflammation that can damage, thicken and scar tissues and organs in the body and in severe cases, cause organ failure and death. Patients with Erdheim-Chester disease may experience bone pain, osteosclerosis (abnormal increase in bone density), headaches, seizures, cognitive impairment, shortness of breath, issues controlling motion, heart or kidney disease, damage to the pituitary gland resulting in hormonal problems like diabetes insipidus, which causes an imbalance of fluids in the body, and even infertility. It is characterized by a high mortality rate: in 2005, the survival rate was below 50% at three years after diagnosis. Current treatments for the disease include chemotherapy and radiation therapy to destroy rapidly growing histiocytes, surgery to remove masses of histiocytes, drugs to reduce inflammation in the body, and immunotherapy; however, this is there no known cure. Chemotherapy, radiation therapy and surgery take an immense physical and mental toll on patients, so there is a dire need for more effective and less invasive and harsh treatment options.
Additionally, because of its rarity, Erdheim-Chester disease is incredibly difficult to even diagnose. Patients may go months or years after symptoms appear without a proper diagnosis. Tests and screenings such as blood tests, neurological examinations, X-rays, bone scans, CT scans, MRIs, PET scans, ultrasounds, electrocardiogram and echocardiogram can all be used in measuring the presence and severity of symptoms but do not provide a definitive diagnosis. Erdheim-Chester disease presents similarly to Langerhans cell histiocytosis, causing the two conditions to be confused oftentimes by doctors. Only with the presence of inflamed foamy histiocytes and Touton-type giant cells, lack of Birbeck granules or negative stain for the S-100 antigen or CD1a in a biopsy can Erdheim-Chester disease be distinguished from Langerhans cell histiocytosis. Erdheim-Chester disease is a difficult condition for patients and their families to cope with and has a profound impact on quality of life. It requires more straightforward and accurate tests and screening processes, faster diagnosis time to allow for early intervention before the disease can progress, and new treatment options that do not take such a heavy mental and physical toll on patients and can target histiocytes specifically, instead of killing both harmful and healthy cells.
The author begins by briefly explaining what Erdheim-Chester disease is and immediately establishes the importance of the issue: severe and painful symptoms, high mortality rate, difficulty diagnosing the disease and differentiating it from Langerhans cell histiocytosis, and harsh and invasive treatment options that do not target histiocyte masses specifically, and she bolsters her argument with specific statistics on mortality rates. Scientific terminology like histiocytes and osteosclerosis were defined, so that the section is easy for someone who has not read about Erdheim-Chester disease before to read and understand. By the end of the piece, the author successfully convinced the reader that there is a need for further research into new treatment options for Erdheim-Chester disease because of how difficult it is for patients and their families to cope with. The author used reputable sources including medical centers and organizations as well as a paper from a peer-reviewed journal, and she wrote professionally, using third person and employing correct spelling, grammar, and formatting.
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“What is Erdheim-Chester Disease?” Erdheim-Chester Disease Global Alliance, https://erdheim-chester.org/
“Successful treatment of Erdheim-Chester disease, a non-Langerhans-cell histiocytosis, with interferon-a.” Blood, https://ashpublications.org/blood/article/106/9/2992/21903/Successful-treatment-of-Erdheim-Chester-disease-a